A compilation of data on primary carnitine deficiencies

A review of the literature carried out by Dutch authors sheds light on the symptoms and signs, often disparate, associated with this metabolic disease discovered in 1973 and which, in certain countries, is the subject of screening. newborn:

  • 757 patient observations were retained from 166 published articles;
  • 20% had only a biochemical diagnosis which may cast doubt on their authenticity, current standards recommending confirmation of the diagnosis by genetics and biochemical functional tests;
  • cardiac manifestations were the most frequently reported far ahead of neurological, hepatic or metabolic complications.


Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach. Crefcoeur LL, Visser G, Ferdinandusse S, et al. J Inherit Metab Dis. 2022 Jan 8.